Linked Data
ClinVar Variation Id:
47409
ClinVar RCV Id:
RCV000040679
RCV000265407
RCV000300600
RCV000304128
RCV000361272
RCV000391590
RCV000726237
RCV002345317
dbSNP Id:
rs376037252
ExAC:
2:179428639 A / G
gnomAD v2:
2-179428639-A-G
gnomAD v3:
2-178563912-A-G
gnomAD v4:
2-178563912-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178563912A>G , CM000664.2:g.178563912A>G | GRCh38 |
| NC_000002.11:g.179428639A>G , CM000664.1:g.179428639A>G | GRCh37 |
| NC_000002.10:g.179136885A>G | NCBI36 |
| NG_011618.3:g.271891T>C , LRG_391:g.271891T>C | |
| NG_051363.1:g.46086A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.74516T>C (TTN) | ENSP00000343764.6:p.Ile24839Thr | |
| ENST00000342175.11:c.55601T>C (TTN) | ENSP00000340554.6:p.Ile18534Thr | |
| ENST00000359218.10:c.55400T>C (TTN) | ENSP00000352154.5:p.Ile18467Thr | |
| ENST00000342175.10:c.55601T>C (TTN) | ENSP00000340554.6:p.Ile18534Thr | |
| ENST00000342992.10:c.74516T>C (TTN) | ENSP00000343764.6:p.Ile24839Thr | |
| ENST00000359218.9:c.55400T>C (TTN) | ENSP00000352154.5:p.Ile18467Thr | |
| ENST00000460472.6:c.55025T>C (TTN) | ENSP00000434586.1:p.Ile18342Thr | |
| ENST00000589042.5:c.82220T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile27407Thr | |
| ENST00000591111.5:c.77297T>C (TTN) | ENSP00000465570.1:p.Ile25766Thr | |
| ENST00000615779.4:c.77297T>C (TTN) | ENSP00000483597.1:p.Ile25766Thr | |
| NM_001256850.1:c.77297T>C (TTN) | NP_001243779.1:p.Ile25766Thr | |
| NM_001267550.2:c.82220T>C (TTN) MANE Select | NP_001254479.2:p.Ile27407Thr | |
| NM_003319.4:c.55025T>C (TTN) | NP_003310.4:p.Ile18342Thr | |
| NM_133378.4:c.74516T>C (TTN) | NP_596869.4:p.Ile24839Thr | |
| NM_133432.3:c.55400T>C (TTN) | NP_597676.3:p.Ile18467Thr | |
| NM_133437.4:c.55601T>C (TTN) | NP_597681.4:p.Ile18534Thr | |
| NR_038271.1:n.447-7388A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-18660A>G (TTN-AS1) | ||
| XM_011511729.1:c.81317T>C (TTN) | XP_011510031.1:p.Ile27106Thr | |
| XM_011511730.1:c.55211T>C (TTN) | XP_011510032.1:p.Ile18404Thr | |
| XM_011511731.1:c.55070T>C (TTN) | XP_011510033.1:p.Ile18357Thr | |
| XM_017004819.1:c.81113T>C (TTN) | XP_016860308.1:p.Ile27038Thr | |
| XM_017004820.1:c.76511T>C (TTN) | XP_016860309.1:p.Ile25504Thr | |
| XM_017004821.1:c.76508T>C (TTN) | XP_016860310.1:p.Ile25503Thr | |
| XM_017004822.1:c.73550T>C (TTN) | XP_016860311.1:p.Ile24517Thr | |
| XM_017004823.1:c.55166T>C (TTN) | XP_016860312.1:p.Ile18389Thr | |
| XM_024453094.1:c.76661T>C (TTN) | XP_024308862.1:p.Ile25554Thr | |
| XM_024453095.1:c.76658T>C (TTN) | XP_024308863.1:p.Ile25553Thr | |
| XM_024453096.1:c.76091T>C (TTN) | XP_024308864.1:p.Ile25364Thr | |
| XM_024453097.1:c.73433T>C (TTN) | XP_024308865.1:p.Ile24478Thr | |
| XM_024453098.1:c.73352T>C (TTN) | XP_024308866.1:p.Ile24451Thr | |
| XM_024453099.1:c.55115T>C (TTN) | XP_024308867.1:p.Ile18372Thr | |
| XM_024453100.1:c.44969T>C (TTN) | XP_024308868.1:p.Ile14990Thr |